Canonical Allele Identifier: CA405957419

Gene: COQ8B

Linked Data

• MyVariant Identifiers: chr19:g.41198029A>C (hg19) ; chr19:g.40692124A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40692124A>C , CM000681.2:g.40692124A>C	GRCh38
NC_000019.9:g.41198029A>C , CM000681.1:g.41198029A>C	GRCh37
NC_000019.8:g.45889869A>C	NCBI36
NG_027800.1:g.29762T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000324464.8:c.1546T>G MANE Select	ENSP00000315118.3:p.Tyr516Asp
ENST00000593724.2:n.3369T>G
ENST00000594490.6:c.1468T>G	ENSP00000471310.2:p.Tyr490Asp
ENST00000594720.6:c.1546T>G	ENSP00000470876.2:p.Tyr516Asp
ENST00000596455.6:n.1838T>G
ENST00000601967.6:c.1546T>G	ENSP00000470916.2:p.Tyr516Asp
ENST00000676555.1:c.*971T>G	ENSP00000503387.1:n.*971T>G
ENST00000676578.1:c.*1288T>G	ENSP00000504076.1:n.*1288T>G
ENST00000676960.1:n.1671T>G
ENST00000676962.1:n.1825T>G
ENST00000677018.1:c.1546T>G	ENSP00000503480.1:p.Tyr516Asp
ENST00000677039.1:n.3749T>G
ENST00000677399.1:n.1988T>G
ENST00000677496.1:c.1219T>G	ENSP00000504773.1:p.Tyr407Asp
ENST00000677517.1:c.1219T>G	ENSP00000503519.1:p.Tyr407Asp
ENST00000677633.1:c.*969T>G	ENSP00000503645.1:n.*969T>G
ENST00000677800.1:c.*4650T>G	ENSP00000503794.1:n.*4650T>G
ENST00000678057.1:c.*1110T>G	ENSP00000503762.1:n.*1110T>G
ENST00000678119.1:n.1740T>G
ENST00000678166.1:n.1689T>G
ENST00000678312.1:n.1883T>G
ENST00000678316.1:c.*969T>G	ENSP00000504112.1:n.*969T>G
ENST00000678371.1:n.1996T>G
ENST00000678404.1:c.1546T>G	ENSP00000503944.1:p.Tyr516Asp
ENST00000678419.1:c.1546T>G	ENSP00000504085.1:p.Tyr516Asp
ENST00000678433.1:n.1902T>G
ENST00000678467.1:c.1546T>G	ENSP00000504072.1:p.Tyr516Asp
ENST00000678569.1:c.*531T>G	ENSP00000504261.1:n.*531T>G
ENST00000678961.1:n.1901T>G
ENST00000679002.1:n.1725T>G
ENST00000679012.1:c.1102T>G	ENSP00000504446.1:p.Tyr368Asp
ENST00000679070.1:c.*965T>G	ENSP00000503759.1:n.*965T>G
ENST00000679130.1:c.1546T>G	ENSP00000504845.1:p.Tyr516Asp
ENST00000679315.1:c.*1376T>G	ENSP00000503065.1:n.*1376T>G
ENST00000243583.10:c.1423T>G	ENSP00000243583.5:p.Tyr475Asp
ENST00000324464.7:c.1546T>G	ENSP00000315118.3:p.Tyr516Asp
ENST00000593724.1:n.1661T>G
NM_001142555.2:c.1423T>G	NP_001136027.1:p.Tyr475Asp
NM_024876.3:c.1546T>G	NP_079152.3:p.Tyr516Asp
XM_005259270.3:c.1708T>G	XP_005259327.2:p.Tyr570Asp
XM_005259271.3:c.1546T>G	XP_005259328.1:p.Tyr516Asp
XM_005259272.3:c.1546T>G	XP_005259329.1:p.Tyr516Asp
XM_005259273.3:c.1546T>G	XP_005259330.1:p.Tyr516Asp
XM_006723392.2:c.1546T>G	XP_006723455.1:p.Tyr516Asp
XM_006723393.2:c.1546T>G	XP_006723456.1:p.Tyr516Asp
XM_011527334.1:c.1546T>G	XP_011525636.1:p.Tyr516Asp
XM_011527335.1:c.1405T>G	XP_011525637.1:p.Tyr469Asp
XM_011527336.1:c.1576T>G	XP_011525638.1:p.Tyr526Asp
XM_011527337.1:c.1546T>G	XP_011525639.1:p.Tyr516Asp
XM_011527338.1:c.1546T>G	XP_011525640.1:p.Tyr516Asp
NM_024876.4:c.1546T>G MANE Select	NP_079152.3:p.Tyr516Asp
NM_001142555.3:c.1423T>G	NP_001136027.1:p.Tyr475Asp